Definition of Seckel syndrome

Seckel syndrome: A birth defect syndrome with
severe short stature and, characteristically, low birth
weight, very small head (microcephaly), receding
forehead, large eyes, low ears, prominent beaklike
protrusion of the nose, and smallish chin. Defects of bones
in the arms and legs, dislocations of the elbow and hip,
and inability to straighten the knees are all common as is
(in boys) failure of the testes to descend into the scrotum
(cryptorchidism). Underproduction of all types of blood
cells (pancytopenia) occurs in some patients, as does
chromosome instability.

Seckel syndrome has been called
"bird-headed dwarfism" (a descriptive term that has come to
be regarded as pejorative). Inside the small head,
unfortunately, there is a very small brain. This usually
means developmental delay and, later, mental retardation.
About half of Seckel children have IQ below 50. Most
children with Seckel syndrome are "friendly and pleasant"
but "often hyperkinetic (hyperactive) and easily
distracted."

This disease is genetic. It is inherited in an autosomal recessive manner. It is not a single homogeneous genetic disease and can be due to genes on chromosomes 3 and 18.

Helmut G.P. Seckel (1900-60) was a pediatrician who fled
his native Germany in 1936 for the USA where he
became professor and eventually chairman of Pediatrics at
the University of Chicago. Dr. Seckel did not discover the
syndrome now named for him but he did, in 1960, produce the
definitive publication describing the clinical condition
based on 2 children he had personally seen with it and 13
reliable + 11 less reliable cases from the medical
literature. Alternative names for Seckel syndrome
(aside from "bird-headed dwarfism") include: Seckel type
dwarfism, nanocephalic dwarfism, and microcephalic
primordial dwarfism.